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Published in Nature genetics (01.04.2006)
Published in Nature genetics (01.04.2006)
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Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease
Balemans, W, Patel, N, Ebeling, M, Van Hul, E, Wuyts, W, Lacza, C, Dioszegi, M, Dikkers, F G, Hildering, P, Willems, P J, Verheij, J B G M, Lindpaintner, K, Vickery, B, Foernzler, D, Van Hul, W
Published in Journal of medical genetics (01.02.2002)
Published in Journal of medical genetics (01.02.2002)
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Homozygous Nonsense Mutations in KIAA1279 Are Associated with Malformations of the Central and Enteric Nervous Systems
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Published in American journal of human genetics (01.07.2005)
Published in American journal of human genetics (01.07.2005)
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Abnormal Dendritic Spines in Fragile X Knockout Mice: Maturation and Pruning Deficits
Comery, Thomas A., Harris, Jennifer B., Willems, Patrick J., Oostra, Ben A., Irwin, Scott A., Weiler, Ivan Jeanne, Greenough, William T.
Published in Proceedings of the National Academy of Sciences - PNAS (13.05.1997)
Published in Proceedings of the National Academy of Sciences - PNAS (13.05.1997)
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Nonsyndromic hearing impairment : Unparalleled heterogeneity
VAN CAMP, G, WILLEMS, P. J, SMITH, R. J. H
Published in American journal of human genetics (01.04.1997)
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Published in American journal of human genetics (01.04.1997)
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Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception
Chen, Ya-Chun, Auer-Grumbach, Michaela, Matsukawa, Shinya, Zitzelsberger, Manuela, Themistocleous, Andreas C, Strom, Tim M, Samara, Chrysanthi, Moore, Adrian W, Cho, Lily Ting-Yin, Young, Gareth T, Weiss, Caecilia, Schabhüttl, Maria, Stucka, Rolf, Schmid, Annina B, Parman, Yesim, Graul-Neumann, Luitgard, Heinritz, Wolfram, Passarge, Eberhard, Watson, Rosemarie M, Hertz, Jens Michael, Moog, Ute, Baumgartner, Manuela, Valente, Enza Maria, Pereira, Diego, Restrepo, Carlos M, Katona, Istvan, Dusl, Marina, Stendel, Claudia, Wieland, Thomas, Stafford, Fay, Reimann, Frank, von Au, Katja, Finke, Christian, Willems, Patrick J, Nahorski, Michael S, Shaikh, Samiha S, Carvalho, Ofélia P, Nicholas, Adeline K, Karbani, Gulshan, McAleer, Maeve A, Cilio, Maria Roberta, McHugh, John C, Murphy, Sinead M, Irvine, Alan D, Jensen, Uffe Birk, Windhager, Reinhard, Weis, Joachim, Bergmann, Carsten, Rautenstrauss, Bernd, Baets, Jonathan, De Jonghe, Peter, Reilly, Mary M, Kropatsch, Regina, Kurth, Ingo, Chrast, Roman, Michiue, Tatsuo, Bennett, David L H, Woods, C Geoffrey, Senderek, Jan
Published in Nature genetics (01.08.2015)
Published in Nature genetics (01.08.2015)
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The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene
Hoornaert, K P, Dewinter, C, Vereecke, I, Beemer, F A, Courtens, W, Fryer, A, Fryssira, H, Lees, M, Müllner-Eidenböck, A, Rimoin, D L, Siderius, L, Superti-Furga, A, Temple, K, Willems, P J, Zankl, A, Zweier, C, De Paepe, A, Coucke, P, Mortier, G R
Published in Journal of medical genetics (01.05.2006)
Published in Journal of medical genetics (01.05.2006)
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Nonsyndromic hearing impairment is associated with a mutation in DFNA5
Van Camp, Guy, Laer, Lut Van, Huizing, Egbert H, Verstreken, Margriet, Zuijlen, Diederick van, Wauters, Jan G, Bossuyt, Paul J, Van de Heyning, Paul, McGuirt, Wyman T, Smith, Richard J.H, Willems, Patrick J, Legan, P. Kevin, Richardson, Guy P
Published in Nature genetics (01.10.1998)
Published in Nature genetics (01.10.1998)
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Mutations in FLNB cause boomerang dysplasia
Bicknell, L S, Morgan, T, Bonafé, L, Wessels, M W, Bialer, M G, Willems, P J, Cohn, D H, Krakow, D, Robertson, S P
Published in Journal of medical genetics (01.07.2005)
Published in Journal of medical genetics (01.07.2005)
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Fmr1 knockout mice: A model to study fragile X mental retardation
The Dutch-Belgian Fragile X Consorthium, Bakker, Cathy E., Verheij, Coleta, Willemsen, Rob, van der Helm, Robert, Oerlemans, Frank, Vermey, Marcel, Bygrave, Anne, Hoogeveen, AndréT., Oostra, Ben A., Reyniers, Edwin, De Boule, Kristel, D'Hooge, Rudi, Cras, Patrick, van Velzen, Désiré, Nagels, Guy, Martin, Jean-Jacques, De Deyn, Peter P., Darby, John K., Willems, Patrick J.
Published in Cell (15.07.1994)
Published in Cell (15.07.1994)
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Mutations in the human α-tectorin gene cause autosomal dominant non-syndromic hearing impairment
Verhoeven, Kristien, Laer, Lut Van, Kirschhofer, Karin, Legan, P. Kevin, Hughes, David C, Schatteman, Isabelle, Verstreken, Margriet, Hauwe, Peter Van, Coucke, Paul, Chen, Achih, Smith, Richard J.H, Somers, Thomas, Offeciers, F. Erwin, Heyning, Paul Van de, Richardson, Guy P, Wachtler, Franz, Kimberling, William J, Willems, Patrick J, Govaerts, Paul J, Camp, Guy Van
Published in Nature genetics (01.05.1998)
Published in Nature genetics (01.05.1998)
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L1 Knockout Mice Show Dilated Ventricles, Vermis Hypoplasia and Impaired Exploration Patterns
Fransen, Erik, D'Hooge, Rudi, Van Camp, Guy, Verhoye, Marleen, Sijbers, Jan, Reyniers, Edwin, Soriano, Philippe, Kamiguchi, Hiroyuki, Willemsen, Rob, Koekkoek, Sebastiaan K. E., De Zeeuw, Chris I., De Deyn, Peter P., Van der Linden, Annemie, Lemmon, Vance, Kooy, R. Frank, Willems, Patrick J.
Published in Human molecular genetics (01.06.1998)
Published in Human molecular genetics (01.06.1998)
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L1-Associated Diseases: Clinical Geneticists Divide, Molecular Geneticists Unite
Fransen, Erik, Van Camp, Guy, Vits, Lieve, Willems, Patrick J.
Published in Human molecular genetics (01.01.1997)
Published in Human molecular genetics (01.01.1997)
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Three new families with arterial tortuosity syndrome
Wessels, Marja W., Catsman-Berrevoets, Coriene E., Mancini, Grazia M.S., Breuning, Martijn H., Hoogeboom, Jeanette J.M., Stroink, Hans, Frohn-Mulder, Ingrid, Coucke, Paul J., Paepe, Anne De, Niermeijer, Martinus F., Willems, Patrick J.
Published in American journal of medical genetics. Part A (01.12.2004)
Published in American journal of medical genetics. Part A (01.12.2004)
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